A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course.
Am J Med Genet A
; 194(8): e63616, 2024 08.
Article
en En
| MEDLINE
| ID: mdl-38551204
ABSTRACT
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones, and often associated with nephropathy. It is caused by heterozygous mutation in the MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation and wide spectrum of disease severity have been observed in patients with MCTO. Here, we report a case of a male patient who presented with kidney failure in childhood with progressive disabling skeletal deformity. He was diagnosed with MCTO at 31-years-old, where a de novo pathogenic heterozygous variant in NM_005461.5c.212C>A p.(Pro71His) of the MAFB gene was identified. While there has been little data on the long-term prognosis and life expectancy of this disease, this case report sheds light on the debilitating disease course with multiple significant morbidities of a patient with MCTO throughout his lifetime of 33 years.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Osteólisis
/
Factor de Transcripción MafB
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
/
Am. j. med. genet., Part A
/
American journal of medical genetics. Part A
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
China